| Metadata | |
|---|---|
| ID | DOID:0111333 |
| Name | early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome |
| Definition | A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. https://www.ncbi.nlm.nih.gov/pubmed/22101682 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital myopathy 10A [EXACT] EMARDD [EXACT] Myopathy, areflexia, respiratory distress, and dysphagia, early-onset [EXACT] |
| Parent Relationships |
is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some muscle weakness |